Canonical Allele Identifier: CA3006008070
Community Standard Title: NM_001193646.2(ATF5):c.45_46insTCCAG (p.Leu16SerfsTer12)
Gene: ATF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49930895_49930896insTCCAG , CM000681.2:g.49930895_49930896insTCCAG GRCh38
NC_000019.9:g.50434152_50434153insTCCAG , CM000681.1:g.50434152_50434153insTCCAG GRCh37
NC_000019.8:g.55125964_55125965insTCCAG NCBI36
NG_021170.1:g.3611_3612insTGGAC
NG_023448.1:g.3837_3838insTGGAC

Transcript Alleles

HGVS Amino-acid Change
NM_001193646.2:c.45_46insTCCAG MANE Select NP_001180575.1:p.Leu16SerfsTer12
ENST00000423777.7:c.45_46insTCCAG MANE Select ENSP00000396954.1:p.Leu16SerfsTer12
NM_001193646.1:c.45_46insTCCAG NP_001180575.1:p.Leu16SerfsTer12
NM_001290746.1:c.45_46insTCCAG NP_001277675.1:p.Leu16SerfsTer12
NM_001290746.2:c.45_46insTCCAG NP_001277675.1:p.Leu16SerfsTer12
NM_012068.5:c.45_46insTCCAG NP_036200.2:p.Leu16SerfsTer12
NM_012068.6:c.45_46insTCCAG NP_036200.2:p.Leu16SerfsTer12
ENST00000423777.6:c.45_46insTCCAG ENSP00000396954.1:p.Leu16SerfsTer12
ENST00000451973.1:c.191+20996_191+20997insTGGAC ENSP00000391489.1:n.191+20996_191+20997insTGGAC
ENST00000595125.5:c.45_46insTCCAG ENSP00000470633.1:p.Leu16SerfsTer12
ENST00000596658.1:c.45_46insTCCAG ENSP00000470464.1:p.Leu16SerfsTer12
ENST00000597227.5:c.45_46insTCCAG ENSP00000470978.1:p.Leu16SerfsTer12
ENST00000600336.1:c.45_46insTCCAG ENSP00000471162.1:p.Leu16SerfsTer12
ENST00000676286.1:c.169_170insTCCAG ENSP00000502402.1:p.Ala57ValfsTer?
XM_011526629.1:c.45_46insTCCAG XP_011524931.1:p.Leu16SerfsTer12
XM_011526629.3:c.45_46insTCCAG XP_011524931.1:p.Leu16SerfsTer12